Multiple congenital anomalies/dysmorphic syndrome

This study tested the safety of a drug called maralixibat in 27 infants under 12 months old with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC), two rare liver diseases that cause bile buildup. The drug is given as an oral solution and aims to reduce bi…

This study tested a special dental appliance to correct underbite (Class III malocclusion) in 36 children aged 7 to 12. The device combines a fixed inclined plane on the lower front teeth with rotated brackets on the upper front teeth to encourage proper jaw growth. After 6 month…

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

This early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…

This study tested the safety and effectiveness of atorvastatin (Lipitor) in 15 children with Alagille syndrome who had skin cholesterol deposits called xanthomas. The children took the drug for 6 months, and doctors graded the size and number of the lumps. The goal was to see if …

This study tested a modified jaw surgery (Le Fort I osteotomy) in 9 adults with cleft lip and palate who also had a misaligned bite and a bone gap in the upper jaw. The surgery aimed to improve facial structure and reduce the size of the bone defect. Researchers measured changes …

This phase 3 study tested TAK-625 (maralixibat) in 7 Japanese children with Alagille syndrome, a rare genetic liver disorder. The goal was to see if the drug reduces bile acid levels and itching, and to find the best dose. Participants took the drug daily for up to 34 months, wit…

This study tested two methods to correct underbite (skeletal Class III malocclusion) in 14 growing children. One group used a traditional tooth-borne anchor with a face mask, while the other used a palatal plate with a face mask. The goal was to see which approach better moves th…

This completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…

This early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …

This study tested two ways to pull the upper jaw forward in 40 children aged 7-13 with underbite. One method used a traditional face mask attached to teeth, the other used tiny screws placed in the cheekbone. Both followed a special expansion protocol. The goal was to see which a…

This study looked at the long-term safety of a drug called maralixibat in 52 people with cholestatic liver disease, including Alagille Syndrome and other rare conditions. Participants had already taken maralixibat in an earlier study. Researchers tracked side effects and how well…

This completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…

This study compared three treatments for children aged 9-12 with a forward lower jaw (Class III malocclusion): a face mask with expander, a mini maxillary protractor, and a chin cup with elastics. Fifty-five children were treated, and researchers measured changes in facial bones …

This study tested whether a mobile game could help children aged 11-14 with chronic kidney failure better manage their condition. 68 children were split into two groups: one used the game, the other received standard education. Researchers measured changes in BMI, blood pressure,…

This study tested two new tools for diagnosing tuberculosis (TB): a software that analyzes chest X-rays (CAD4TB) and a blood test that measures C-reactive protein (CRP). Researchers enrolled 1,400 adults with TB symptoms in Lesotho and South Africa. They compared these tests to s…

This study tested three methods of keeping teeth dry while applying protective sealants to prevent cavities in children's permanent molars. Thirty children at high risk for cavities took part, and each method was compared for how long it took, how well the sealant stayed on after…

This study tested whether quercetin, a natural substance found in some foods, could help prevent a type of mouth cancer in people with Fanconi anemia, a rare genetic condition that raises cancer risk. 48 participants took quercetin to see if it reduced certain cell changes linked…

This study compared two therapies—myofeedback and neuromuscular electrical stimulation—to see which better improves arm and hand function in children aged 6 to 14 who have one-sided weakness (hemiplegia) after brain tumor surgery. Forty-five children participated, and researchers…

This phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …

This study looked at whether aerobic exercise and virtual reality games could improve functional capacity, activity, and participation in children aged 6-10 living in care facilities. Sixty-three children were split into groups: one did aerobic exercise, one played VR games, and …

This study looked at whether music can help children aged 6-9 feel less anxious and experience less pain during a routine dental procedure (applying sealants). Each child had three treatments: one with no music, one with classical music chosen by the dentist, and one with their o…

This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

This study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…

This study looked at whether using finger puppets, video games, or stress balls can help reduce fear and improve emotional behavior in children aged 4-6 who need inhaler therapy. 120 children participated, and researchers measured their fear levels, emotional responses, and paren…

This study looked at whether adding a 3D myofascial release technique (a type of hands-on therapy) to McGill exercises (a specific back exercise program) helps people with non-specific low back pain. 38 adults with pain and an exaggerated inward curve of the lower spine took part…

This study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…

This study looked at whether children with year-round allergic rhinitis can use a nasal steroid spray only when symptoms bother them, instead of every day. Sixty-eight children aged 6 to 18 were randomly assigned to either daily use or as-needed use of fluticasone furoate spray. …

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …

This study looked at how patients and healthcare professionals experienced a new way of organizing primary care, where different health workers work together as a team. Researchers interviewed 48 patients and staff at one health centre in France. The goal was to understand what w…

This completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these cond…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This study looked at 31 people with a type of jaw misalignment called skeletal Class III deformity. Researchers compared how the face's soft tissues changed after two types of jaw surgery: a minimally invasive approach and a conventional one. Using 3D imaging, they measured diffe…

This study looked at a treatment called "Surgery-First" for people with a severe underbite (skeletal Class III malocclusion). Instead of wearing braces before surgery, patients had jaw surgery first to fix the bone problem, then braces afterward. Researchers studied 60 patients u…

This study tested a school program called SocLaLola that uses a comic book to teach children aged 8-11 about pain. The goal was to see if it improves kids' understanding of pain and reduces their fear of moving. Eighty-two students from two primary schools took part. The program …

This completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…

This study followed 60 heart transplant patients for one year to see if levels of a harmless virus called TTV in the blood are linked to infections or organ rejection. Researchers took monthly blood samples alongside routine care. The goal is to find a new way to monitor transpla…

This study looked at 24 adults with a specific jaw misalignment (Class III) who needed double-jaw surgery. Researchers compared two different surgical timings—surgery first versus surgery early—to see how they affected tooth root length and volume, as well as facial soft tissues.…

This study looked at 78 teens with adolescent idiopathic scoliosis to see if the size of their spinal curve (Cobb angle) is linked to how much pain they feel and how they see their body. Participants were grouped by curve severity (mild, moderate, moderate-to-severe). Researchers…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This completed study tracked 132 children with obstructive sleep apnea who had their tonsils removed. Researchers recorded how many had breathing problems after surgery, especially those with other health issues. The goal was to create a simple flowchart to help doctors decide wh…

This study tested a mobile health tool called CAARE to help children under 12 and their caregivers cope with emotional and behavioral challenges after a traumatic injury. Researchers measured changes in distress, PTSD symptoms, depression, and quality of life in 54 participants. …

This study reviewed medical records of 12 children with CHARGE syndrome who had cochlear implant surgery. Researchers looked at their ear bone structure and surgical challenges to find ways to make the operation safer. The goal is to help surgeons better prepare for the unique an…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …

This completed study looked at how accurately a custom-made implant (called a PSI) could reposition the lower jaw during surgery for overbite or underbite. Eight patients aged 18-40 who needed jaw surgery received the custom implant. The researchers compared the planned jaw posit…

This study looked at two methods to widen the upper jaw in adults whose jawbone has fully grown. One method uses small screws anchored in the roof of the mouth, and the other adds tiny bone punctures to help the jaw separate more easily. Twenty-four adults took part, and the resu…

This study looked at 34 children with a narrow upper jaw (maxillary hypoplasia) who needed a rapid palatal expander. Researchers measured the electrical activity of chewing muscles before treatment, right after expansion, and 6 months later. The goal was to see if correcting the …

This study looked at 153 first-time mothers in Turkey to see if their body measurements (like height, weight, and hip width) relate to pelvic size and how labor goes. Researchers measured the pelvis through exams and ultrasound, then tracked pain, labor length, and whether delive…

This pilot study tested whether a combination of two drugs (G-CSF and plerixafor) could safely collect enough stem cells from the blood of children with Fanconi anemia for future gene therapy. Only 4 patients took part, and the main goal was to see if the cell collection process …

This completed study followed 477 women in Denmark who had a planned cesarean delivery. Researchers used text-message surveys to track pain levels, medication use, and how pain affected daily life over several months. The goal was to better understand how common persistent pain i…